Canonical Allele Identifier: CA1099865426

Gene:

Linked Data

• dbSNP Id: rs1193036375
• gnomAD v3: 7-30897493-C-A
• gnomAD v4: 7-30897493-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897493C>A , CM000669.2:g.30897493C>A	GRCh38
NC_000007.13:g.30937108C>A , CM000669.1:g.30937108C>A	GRCh37
NC_000007.12:g.30903633C>A	NCBI36
NG_007475.2:g.49100C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-14500C>A